Achondroplasia

E. D. Shirley, Michael Ain

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Achondroplasia is the most common skeletal dysplasia, with approximately 250. 000 individuals affected worldwide. This dysplasia is secondary to mutations in FGFR3 gene encoding fibroblast growth factor receptor 3, which result in an increase in its inhibitory effect on bone growth. Musculoskeletal manifestations include foramen magnum stenosis, thoracolumbar kyphosis, spinal stenosis, and genu varum. Medical manifestations include sleep apnea, recurrent otitis media, and obesity. Multidisciplinary management is required to optimize treatment.

Original languageEnglish (US)
Title of host publicationBrenner's Encyclopedia of Genetics
Subtitle of host publicationSecond Edition
PublisherElsevier Inc.
Pages4-6
Number of pages3
ISBN (Electronic)9780080961569
ISBN (Print)9780123749840
DOIs
StatePublished - Feb 27 2013

Keywords

  • Achondroplasia
  • Fibroblast growth factor receptor 3
  • Foramen magnum stenosis
  • Genu varum
  • Skeletal dysplasia
  • Spinal stenosis
  • Thoracolumbar kyphosis

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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